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Topic Review
Menkes Syndrome
Menkes syndrome is a disorder that affects copper levels in the body.
  • 798
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type IX
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
  • 798
  • 23 Dec 2020
Topic Review
Keratoderma with Woolly Hair
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.
  • 798
  • 23 Dec 2020
Topic Review
Benign Familial Neonatal Seizures
Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.
  • 798
  • 24 Dec 2020
Topic Review
OPN1MW Gene
opsin 1, medium wave sensitive
  • 798
  • 24 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 36
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.  
  • 797
  • 23 Dec 2020
Topic Review
ABCA3 Gene
ATP binding cassette subfamily A member 3
  • 797
  • 24 Dec 2020
Topic Review
POMT2 Gene
protein O-mannosyltransferase 2
  • 797
  • 25 Dec 2020
Topic Review
TYROBP Gene
TYRO protein tyrosine kinase binding protein.
  • 796
  • 23 Dec 2020
Topic Review
Incontinentia Pigmenti
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
  • 796
  • 23 Dec 2020
Topic Review
Laing Distal Myopathy
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement.
  • 796
  • 23 Dec 2020
Topic Review
Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. 
  • 796
  • 24 Dec 2020
Topic Review
SCN8A-Related Epilepsy with Encephalopathy
SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.
  • 796
  • 24 Dec 2020
Topic Review
NTRK1 Gene
neurotrophic receptor tyrosine kinase 1
  • 796
  • 24 Dec 2020
Topic Review
OPA1 Gene
OPA1, mitochondrial dynamin like GTPase
  • 796
  • 24 Dec 2020
Topic Review
FANCA Gene
FA complementation group A
  • 796
  • 25 Dec 2020
Topic Review
GJA1 Gene
Gap junction protein alpha 1
  • 796
  • 25 Dec 2020
Topic Review
Molybdenum Cofactor Deficiency
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."
  • 795
  • 23 Dec 2020
Topic Review
CYBA Gene
Cytochrome B-245 Alpha Chain: The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-phox). 
  • 795
  • 23 Dec 2020
Topic Review
CAV3-Related Distal Myopathy
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet.
  • 795
  • 24 Dec 2020
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